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GENE - TERM ANNOTATION REPORT

RGD ID: 10439
Species: Mus musculus
RGD Object: Gene
Symbol: Cyp1b1
Name: cytochrome P450, family 1, subfamily b, polypeptide 1
Acc ID: DOID:0060648
Term: anterior segment dysgenesis
Definition: An eye disease that is characterized by iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface and is located_in the anterior segment of the eye. (DO)
Definition Source(s): https://rarediseases.info.nih.gov/diseases/10025/anterior-segment-dysgenesis "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/17914436 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/30242500 "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Cyp1b1 ISOCYP1B1 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Cyp1b1 ISOCYP1B1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Anterior segment dysgenesis | ClinVar Annotator: match by term: Ocular anterior segment dysgenesisPMID:10655546 PMID:11403040 PMID:11527932 PMID:12036985 PMID:15342693 PMID:15475877 PMID:17591938 PMID:18470941 PMID:18622259 PMID:18852424 PMID:19179758 PMID:19234632 PMID:19643970 PMID:22004014 PMID:23218701 PMID:23922489 PMID:24033266 PMID:24281366 PMID:24940937 PMID:25741868 PMID:26550445 PMID:27243976 PMID:27272408 PMID:27508083 PMID:27777502 PMID:27820421 PMID:28192799 PMID:28448622 PMID:28492532 PMID:30520782 PMID:32499604 PMID:32832252 PMID:9097971 PMID:9497261
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